Canonical Allele Identifier: CA022476

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49847
• ClinVar RCV Id: RCV000043113 ; RCV000118715 ; RCV000163255 ; RCV000589943 ; RCV001510591
• dbSNP Id: rs1051771
• ExAC: 16:2138584 G / C
• gnomAD v2: 16-2138584-G-C
• gnomAD v3: 16-2088583-G-C
• gnomAD v4: 16-2088583-G-C
• MyVariant Identifiers: chr16:g.2138584G>C (hg19) ; chr16:g.2088583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088583G>C , CM000678.2:g.2088583G>C	GRCh38
NC_000016.9:g.2138584G>C , CM000678.1:g.2138584G>C	GRCh37
NC_000016.8:g.2078585G>C	NCBI36
NG_005895.1:g.44278G>C , LRG_487:g.44278G>C
NG_008617.1:g.54638C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3746G>C	ENSP00000455997.2:n.*3746G>C
ENST00000642206.2:c.5244G>C	ENSP00000495146.2:p.Ser1748=
ENST00000642365.2:c.5394G>C	ENSP00000495459.2:p.Ser1798=
ENST00000644417.2:c.*5910G>C	ENSP00000493912.2:n.*5910G>C
ENST00000646464.2:c.*8146G>C	ENSP00000496610.2:n.*8146G>C
ENST00000219476.9:c.5397G>C MANE Select	ENSP00000219476.3:p.Ser1799=
ENST00000350773.9:c.5328G>C	ENSP00000344383.4:p.Ser1776=
ENST00000401874.7:c.5196G>C	ENSP00000384468.2:p.Ser1732=
ENST00000568454.6:c.5229G>C	ENSP00000454487.1:p.Ser1743=
ENST00000569110.2:c.1620G>C
ENST00000569930.2:n.3279G>C
ENST00000642365.1:c.4051G>C
ENST00000642561.1:c.5256G>C	ENSP00000495099.1:p.Ser1752=
ENST00000642791.1:n.994G>C
ENST00000642797.1:c.5199G>C	ENSP00000493846.1:p.Ser1733=
ENST00000642936.1:c.5265G>C	ENSP00000494514.1:p.Ser1755=
ENST00000643088.1:c.5190G>C	ENSP00000494747.1:p.Ser1730=
ENST00000643426.1:n.3045G>C
ENST00000643946.1:c.5322G>C	ENSP00000495927.1:p.Ser1774=
ENST00000644043.1:c.5268G>C	ENSP00000496262.1:p.Ser1756=
ENST00000644329.1:c.5283G>C	ENSP00000496611.1:p.Ser1761=
ENST00000644335.1:c.5193G>C	ENSP00000496317.1:p.Ser1731=
ENST00000644399.1:c.5318G>C
ENST00000646388.1:c.5391G>C	ENSP00000495921.1:p.Ser1797=
ENST00000646634.1:n.4212G>C
ENST00000646674.1:n.2649G>C
ENST00000647042.1:n.2620G>C
ENST00000647180.1:n.2510G>C
ENST00000219476.7:c.5397G>C	ENSP00000219476.3:p.Ser1799=
ENST00000350773.8:c.5328G>C	ENSP00000344383.4:p.Ser1776=
ENST00000382538.10:c.5052G>C	ENSP00000371978.6:p.Ser1684=
ENST00000401874.6:c.5196G>C	ENSP00000384468.2:p.Ser1732=
ENST00000439117.6:c.*4564G>C	ENSP00000406980.2:n.*4564G>C
ENST00000439673.6:c.5088G>C	ENSP00000399232.2:p.Ser1696=
ENST00000497886.5:n.3120G>C
ENST00000568454.5:c.5229G>C	ENSP00000454487.1:p.Ser1743=
ENST00000569110.1:c.1579G>C
ENST00000569930.1:n.2512G>C
NM_000548.3:c.5397G>C , LRG_487t1:c.5397G>C	NP_000539.2:p.Ser1799=
NM_001077183.1:c.5196G>C	NP_001070651.1:p.Ser1732=
NM_001114382.1:c.5328G>C	NP_001107854.1:p.Ser1776=
XM_005255529.3:c.5268G>C	XP_005255586.2:p.Ser1756=
XM_005255531.3:c.5199G>C	XP_005255588.2:p.Ser1733=
XM_011522636.1:c.5451G>C	XP_011520938.1:p.Ser1817=
XM_011522637.1:c.5448G>C	XP_011520939.1:p.Ser1816=
XM_011522638.1:c.5340G>C	XP_011520940.1:p.Ser1780=
XM_011522639.1:c.5322G>C	XP_011520941.1:p.Ser1774=
XM_011522640.1:c.5319G>C	XP_011520942.1:p.Ser1773=
XM_011522641.1:c.5088G>C	XP_011520943.1:p.Ser1696=
NM_000548.4:c.5397G>C	NP_000539.2:p.Ser1799=
NM_001077183.2:c.5196G>C	NP_001070651.1:p.Ser1732=
NM_001114382.2:c.5328G>C	NP_001107854.1:p.Ser1776=
NM_001318827.1:c.5088G>C	NP_001305756.1:p.Ser1696=
NM_001318829.1:c.5052G>C	NP_001305758.1:p.Ser1684=
NM_001318831.1:c.4665G>C	NP_001305760.1:p.Ser1555=
NM_001318832.1:c.5229G>C	NP_001305761.1:p.Ser1743=
NM_001363528.1:c.5199G>C	NP_001350457.1:p.Ser1733=
NM_021055.2:c.5268G>C	NP_066399.2:p.Ser1756=
XM_005255531.4:c.5199G>C	XP_005255588.2:p.Ser1733=
XM_011522636.2:c.5451G>C	XP_011520938.1:p.Ser1817=
XM_011522637.2:c.5448G>C	XP_011520939.1:p.Ser1816=
XM_011522638.2:c.5613G>C	XP_011520940.2:p.Ser1871=
XM_011522639.2:c.5322G>C	XP_011520941.1:p.Ser1774=
XM_011522640.2:c.5319G>C	XP_011520942.1:p.Ser1773=
XM_017023615.1:c.5394G>C	XP_016879104.1:p.Ser1798=
XM_017023616.1:c.5265G>C	XP_016879105.1:p.Ser1755=
XM_017023617.1:c.5361G>C	XP_016879106.1:p.Ser1787=
XM_017023618.1:c.4107G>C	XP_016879107.1:p.Ser1369=
XM_024450413.1:c.5283G>C	XP_024306181.1:p.Ser1761=
NM_000548.5:c.5397G>C MANE Select	NP_000539.2:p.Ser1799=
NM_001370404.1:c.5265G>C	NP_001357333.1:p.Ser1755=
NM_001370405.1:c.5256G>C	NP_001357334.1:p.Ser1752=
NM_001077183.3:c.5196G>C	NP_001070651.1:p.Ser1732=
NM_001114382.3:c.5328G>C	NP_001107854.1:p.Ser1776=
NM_001318827.2:c.5088G>C	NP_001305756.1:p.Ser1696=
NM_001318829.2:c.5052G>C	NP_001305758.1:p.Ser1684=
NM_001318831.2:c.4665G>C	NP_001305760.1:p.Ser1555=
NM_001318832.2:c.5229G>C	NP_001305761.1:p.Ser1743=
NM_001363528.2:c.5199G>C	NP_001350457.1:p.Ser1733=
NM_021055.3:c.5268G>C	NP_066399.2:p.Ser1756=